Zakrzewska-Koperska Joanna, Franaszczyk Maria, Bilińska Zofia, Truszkowska Grażyna, Karczmarz Małgorzata, Szumowski Łukasz, Zieliński Tomasz, Płoski Rafał, Bilińska Maria
Department of Arrhythmia, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland.
Molecular Biology Laboratory, Department of Medical Biology, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland.
BMC Med Genet. 2018 Jun 5;19(1):94. doi: 10.1186/s12881-018-0599-4.
Mutations of the SCN5A gene are reported in 2-4% of patients with dilated cardiomyopathy (DCM). In such cases, DCM is associated with different rhythm disturbances such as the multifocal ectopic Purkinje-related premature contractions and atrial fibrillation. Arrhythmia often occurs at a young age and is the first symptom of heart disease.
We present the case of 55-year old male with a 30-year history of heart failure (HF) in the course of familial DCM and complex ventricular tachyarrhythmias, which constituted 50-80% of the whole rhythm. The patient was qualified for heart transplantation because of the increasing symptoms of HF. We revealed the heterozygotic R222Q mutation in SCN5A by means of whole exome sequencing. After the quinidine treatment, a rapid and significant reduction of ventricular tachyarrhythmias and an improvement in the myocardial function were observed and this effect remained constant in the 2.5-year follow-up. This effect was observed even in the presence of concomitant coronary artery disease.
Patients with familial DCM and Purkinje-related ventricular arrhythmias should be offered genetic screening. The quinidine treatment for the SCN5A R222Q mutation can be life saving for patients.
在2% - 4%的扩张型心肌病（DCM）患者中报告存在SCN5A基因突变。在这些病例中，DCM与不同的节律紊乱相关，如多灶性与浦肯野纤维相关的异位早搏和心房颤动。心律失常常发生于年轻患者，且是心脏病的首发症状。
我们报告一例55岁男性患者，患有家族性DCM伴心力衰竭（HF）30年，伴有复杂的室性快速心律失常，其在整个心律中占比50% - 80%。由于HF症状加重，该患者符合心脏移植条件。我们通过全外显子组测序发现了SCN5A基因的杂合R222Q突变。奎尼丁治疗后，观察到室性快速心律失常迅速且显著减少，心肌功能改善，且在2.5年的随访中这种效果持续存在。即使在合并冠状动脉疾病的情况下也观察到了这种效果。
对于患有家族性DCM和与浦肯野纤维相关的室性心律失常的患者，应进行基因筛查。针对SCN5A R222Q突变的奎尼丁治疗可能对患者挽救生命。
